Potulska-Chromik, 2017: Overview of all reported DYT/PARK-GCH1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
6
n.a.
n.a.
Lower limb dystonia
Dystonia (any or unspecified)
Dystonia, foot
Dystonia, limb
Dystonia, focal
Show more (+2)
n.a.
c.453+1G>A: het
No
n.a.
n.a.
n.a.
n.a.
n.a.
Parkinsonism
Bradykinesia
n.a.
c.453+1G>A: het
Yes
n.a.
n.a.
5
10
n.a.
Lower limb dystonia
Dystonia (any or unspecified)
Dystonia, task-specific
Dystonia, segmental/multifocal
Dystonia, hand
Dystonia, foot
Dystonia, limb
Upper limb dystonia
Show more (+5)
n.a.
Yes
n.a.
n.a.
7
n.a.
n.a.
Dystonia, generalized
Lower limb dystonia
Diurnal fluctuations
Dystonia (any or unspecified)
Dystonia, axial
Dystonia, limb
Dyskinesia
Dystonia, segmental/multifocal
Dystonia, foot
Show more (+6)
n.a.
c.453+1G>A: het